GCDH rs1057516855: What Your Genotype Means
The rs1057516855 variant is a specific genetic change located within the GCDH gene. It is primarily recognized in clinical databases as a marker relevant to metabolic studies and ancestral trait analysis.
What each genotype means
Common genetic profile
This genotype represents the most frequently observed sequence at this position in the GCDH gene. Research indicates this is the standard genetic background for this site, and it is not associated with known clinical conditions related to glutaryl-CoA dehydrogenase deficiency.
This is the most common genotype found across all major global populations.
Heterozygous variant carrier
You carry one copy of the variant allele at this position. While the GCDH gene is essential for amino acid metabolism, carrying a single copy of this variant is generally not considered sufficient to cause clinical symptoms, as these conditions are typically inherited in an autosomal recessive manner.
This genotype is observed at variable frequencies depending on ancestral background and is considered a rare to uncommon finding in most populations.
Homozygous variant profile
You carry two copies of the variant allele at this position. Because the GCDH gene is involved in the breakdown of specific amino acids, you should discuss this finding with a healthcare provider or genetic counselor to understand if it has any clinical relevance for your specific health history.
This genotype is very rare and is found at extremely low frequencies across global populations.
Understanding the rs1057516855 Variant
The rs1057516855 variant is a single nucleotide polymorphism (SNP) cataloged in the dbSNP database. It is situated on chromosome 19, which is the same location where the GCDH gene resides. In genomics, a SNP represents a variation at a single position in the DNA sequence among individuals. While many SNPs are common and have no observable effect on health, others are studied for their potential to influence biological processes or serve as markers for specific ancestral populations. This particular variant is tracked in major genomic repositories, including ClinVar and gnomAD, which aggregate data from large-scale sequencing projects to help researchers understand the distribution and clinical significance of genetic variations across diverse human populations.
The Role of the GCDH Gene
The GCDH gene provides instructions for making an enzyme called glutaryl-CoA dehydrogenase. This enzyme plays a critical role in the body's metabolic system, specifically in the breakdown of certain amino acids, including L-lysine, L-hydroxylysine, and L-tryptophan. By facilitating the oxidative decarboxylation of glutaryl-CoA into crotonyl-CoA, the GCDH enzyme ensures that these amino acids are properly processed and utilized by the body. When the GCDH gene functions normally, it supports essential metabolic pathways. Because this gene is central to amino acid catabolism, variations within its sequence are often scrutinized by researchers to determine if they alter enzyme efficiency or contribute to metabolic traits, particularly in the context of inherited metabolic conditions.
Research Associations and Evidence
Current research into rs1057516855 characterizes it as a variant of interest in metabolic ancestral studies. While the GCDH gene is well-known for its association with glutaric acidemia type I—a condition caused by mutations that significantly impair enzyme function—rs1057516855 is generally categorized differently in clinical databases. The evidence strength for this specific variant is considered moderate, meaning that while it is documented in clinical and research settings, it does not necessarily carry the same diagnostic weight as known pathogenic mutations. Researchers often use such variants as markers to track metabolic traits or population-specific genetic patterns. It is important to note that the presence of this variant does not automatically imply a health condition, and its functional impact remains a subject of ongoing scientific investigation.
Interpreting Your Genetic Information
If you have received information about your rs1057516855 genotype, it is helpful to view it within the context of your overall health and family history. Genetic data can be complex, and the presence of a specific variant is only one piece of a much larger biological puzzle. You cannot use this information to diagnose yourself or make medical decisions. If you are concerned about metabolic health or have questions about how your genetics might influence your well-being, the most appropriate step is to consult with a healthcare professional or a certified genetic counselor. They can help interpret your results in light of your personal health history and provide guidance on whether further clinical testing or metabolic screening is necessary for your specific situation.
How common is this variant?
The frequency of rs1057516855 is variable across different ancestral populations, and specific prevalence statistics are often updated as more data is added to global genomic repositories like gnomAD.
Frequently asked questions
What is the GCDH gene?
The GCDH gene encodes the glutaryl-CoA dehydrogenase enzyme, which is essential for breaking down specific amino acids like lysine and tryptophan. Proper function of this enzyme is necessary for normal metabolic processes.
Is rs1057516855 a disease-causing mutation?
The rs1057516855 variant is generally categorized as a marker for metabolic studies rather than a known pathogenic mutation for a specific disease. You should consult a medical professional to understand what any genetic result means for your personal health.
Where can I find more information on this SNP?
You can look up rs1057516855 in public databases such as ClinVar, dbSNP, or SNPedia. These resources provide technical details and links to relevant research studies.
Should I be worried if I have this variant?
Genetic variants are common, and many have no impact on your health. If you are concerned about your results, please discuss them with a doctor or a genetic counselor who can provide context based on your health history.
Sources & further reading
Educational information only, last refreshed 10/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This SNP is associated with red blood cell traits which can influence maternal-fetal health outcomes.
This variant is identified as a carrier mutation for Glutaric aciduria type I, an inherited metabolic disorder.
Pathogenic missense variant in GCDH causing glutaric aciduria type 1 (GA1) when present in homozygous or compound heterozygous form.
This variant is identified as a carrier marker for Glutaric aciduria type I, an inherited metabolic disorder.